A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818282



Internal ID16060437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144000454..144112657hg38UCSC Ensembl
Innerchr4:144921607..145033810hg19UCSC Ensembl
Innerchr4:145141057..145253260hg18UCSC Ensembl
Innerchr4:145279212..145391415hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38112204
hg19112204
hg18112204
hg17112204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417269
SamplesNA18593
Known GenesGYPA, GYPB
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nsv818282
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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